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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

Down syndrome high risk result

6 replies

Marvbonnie · 11/08/2021 21:56

Hello everyone. First time poster looking for some positive stories and reassurance. Had my first scan on Sunday and bloods for screening. Left feeling happy. Baby appeared to be healthy. Today I had a phone call from screening midwife and my bloods indicate a 1-24 chance that the baby will have DS. I found the phone call really overwhelming and lots of statistics chucked at me. Anyway they asked me to come back in today for another blood test that was more accurate. I think it was the harmony one that is free with our NHS trust but was never specifically told, apart from sometimes you have to pay. Now it’s a waiting game and I feel so overwhelmed! I’ve been told to start aspirin as my papp-a is low but I don’t know why?

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wifeyxx · 11/08/2021 22:24

When I was pregnant with my son I had a very high chance of having a DS baby. His nuchal fold was very thick too. I paid for the harmony test( wasn't free at that time) and it came back low risk. He was born in September and doesn't have DS

Em39ma · 12/08/2021 06:50

Mine came back high 8 weeks ago a 1-22. I had the same test as you harmony by the midwife the next day and got my results 10 days later. It came back as very low risk. The harmony is a lot more sensitive, so gives a more accurate result. Try to not worry( I did) so easy said than done.

Emz2019 · 12/08/2021 08:27

When I was pregnant with my son my risk was 12 weeks was very low, around 1 in 98,000. I felt something was wrong, I went about my business until my 20week scan, on the morning of my 20 week scan, I posted in a forum saying how scared I was and I knew I’d be taken into a bereavement room after my scan, I explained this was not my first baby and I’d never felt like this with my others, another member posted she had been the same and there was a problem and she knew all along, so I went for my scan, they began scanning me, she kept going back to the heart over and and over saying my baby was not in a good position, she called another midwife in to scan me, they took us into another room and explained my baby’s heart had developed very differently to what it should have and I’d need a further scan in the fetal medicine unit in a few days, those days dragged and I googled all the words they wrote in my notes of not seeing the great crossover and suspected DORV, I didn’t know what these words meant but I soon learnt that a child can not live more than a few hours without having major open heart surgery to correct these defects. When my next scan came along they told me they found multiple defects in my poor baby boys heart, they told me I had a 1in5 chance of a chromosome abnormality, they said the most common was downs, Edwards, patus, or di-George, they told me 4 times that day to end my pregnancy and nobody would think any less of me, I was heart broken, I had to try to take this all in just in one go! They told me I either had to end my pregnancy to have an amniocentesis, I couldn’t just walk away from this and hope for the best, I decided I’d take the amniocentesis, they done it immediately and I had the first set of results the next day, he was negative for downs, edwards, and patus, I had a good feeling as they said they were the most common ones, I waited a further 10 long days and nights for the next set of results, which also all came back negative, we made a plan for my baby’s birth, he was to be born naturally if possible as close to due date as possible, and transferred to a different hospital soon after his birth, I may even get to hold him at birth depending on how well he is. When he was born I didn’t get to hold him, he was blue and went into respiratory distress at just 6 minutes told, he was put in the ICU then transferred to the next hospital where I followed and we stayed for 5 weeks. He’s since had 3 open heart surgeries, a lot of other problems along the way, now a diagnosis of autism and sever global developmental delays, he’s 4 almost 5, but I wouldn’t change him for the world. I wish you all the best, my baby’s chance was 1in5 and he got the all clear. So you still have the odds on your side that all is well and I pray it is for you.

DoctorBambino · 12/08/2021 11:12

Hi @Marvbonnie sorry you're going through this, it's really stressful at a time when most mums get to relax and start to feel everything will be OK. I also had a high risk result from the 12 week screening. My NT was 2.7mm, papp a 0.22 and hcg 1.04. This gave me a 1 in 5 of downs and 1 in 89 of the other two. Like you I had the nipt blood test and this came back as low risk. The wait was awful. My hospital doesn't suggest asprin for low papp a but many do as low papp a is linked to a higher chance of pre eclampsia, premature birth and small babies. The asprin can help reduce the risk of high blood pressure developing (and therefore pre eclamsia). Not all women with low papp a have these problems, it is just a greater risk.

I hope all works out OK for you 🙏

housewifeathome · 12/08/2021 12:20

I have low Papp-A, the aspirin is to increase blood flow to the placenta and also to potentially reduce pre-eclampsia risk. Hope your NIPT comes back clear Thanks

Marvbonnie · 12/08/2021 15:42

@Emz2019 your story is truly inspiring. I'm so glad your boy is healthy.

Thank you all so far who have commented. it sure is nice to hear others had similar experience. Just the dreaded wait for the results now Confused

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